SWISSVAR
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1 protein found in SwissVar (30 variants)

with gene/protein name P18074

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P18074 ERCC2_HUMAN xeroderma pigmentosum complementation group d p.Gly47Arg
p.Thr76Ala
p.Arg112His
p.Asp234Asn
p.Leu461Val
p.Leu485Pro
p.Arg511Gln
p.Ser541Arg
p.Tyr542Cys
p.Arg601Leu
p.Arg601Trp
p.Gly602Asp
p.Arg616Pro
p.Arg616Trp
p.Arg666Trp
p.Asp681Asn
p.Arg683Trp
p.Arg683Gln


















P18074 ERCC2_HUMAN trichothiodystrophy 1, photosensitive p.Arg112His
p.Cys259Tyr
p.Leu461Val
p.Arg487Gly
p.Arg592Pro
p.Ala594Pro
p.Arg616Pro
p.Arg658Cys
p.Arg658His
p.Arg658Gly
p.Cys663Arg
p.Asp673Gly
p.Gly713Arg
p.Arg722Trp
p.Ala725Pro















P18074 ERCC2_HUMAN cerebro-oculo-facio-skeletal syndrome 2 p.Arg616Trp
p.Asp681Asn